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MCID: ULN003
MIFTS: 50

Ulnar-Mammary Syndrome

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Ulnar-Mammary Syndrome

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MalaCards integrated aliases for Ulnar-Mammary Syndrome:

Name: Ulnar-Mammary Syndrome 57 12 53 59 75 37 29 13 55 6 44 15 40 73
Schinzel Syndrome 57 12 76 53 59
Ums 57 53 59 75
Pallister Ulnar-Mammary Syndrome 57 12 59
Ulnar-Mammary Syndrome of Pallister 53

Characteristics:

Orphanet epidemiological data:

59
ulnar-mammary syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ulnar-mammary syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Reproductive diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare gynaecological and obstetric diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Ulnar-Mammary Syndrome

About this section
NIH Rare Diseases : 53 Ulnar-mammary syndrome (UMS) is a rare genetic syndrome, present from birth, that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development of the fingers and forearm), underdevelopment of the mammary and apocrine glands (leading to absent breast development and the inability to produce breast milk), and various genital abnormalities. Other signs and symptoms may include hormonal deficiencies, delayed puberty (particularly in males), dental problems, short stature, and obesity. People with UMS may have distinct facial features, including a wide face tapering to a prominent chin, and a broad nose. UMS is caused by mutations in the TBX3 gene and inheritance is autosomal dominant. However, not all people who have or inherit a mutation will have features of UMS. This phenomenon is called incomplete penetrance. Treatment depends on the specific symptoms and severity in each person and may include surgery to improve the function or appearance of limbs, and hormone replacement therapy if hormonal deficiencies are present. The exact prevalence of UMS is not currently known, but less than 150 cases have been reported in the medical literature to date.

MalaCards based summary : Ulnar-Mammary Syndrome, also known as schinzel syndrome, is related to ritscher-schinzel syndrome 1 and ritscher-schinzel syndrome 2. An important gene associated with Ulnar-Mammary Syndrome is TBX3 (T-Box 3), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include breast, pituitary and bone, and related phenotypes are obesity and pectus carinatum

OMIM : 57 The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996). (181450)

UniProtKB/Swiss-Prot : 75 Ulnar-mammary syndrome: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.

Disease Ontology : 12 A syndrome that has material basis in heterozygous mutation in the TBX3 gene. It is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies.

Wikipedia : 76 Ulnar–mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and breast... more...

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Related Diseases for Ulnar-Mammary Syndrome

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Diseases related to Ulnar-Mammary Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 ritscher-schinzel syndrome 1 12.4
2 ritscher-schinzel syndrome 2 12.3
3 ritscher-schinzel syndrome 12.1
4 limb-mammary syndrome 11.2
5 acrocallosal syndrome 11.1
6 murcs association 10.2 TBX3 TBX5
7 acheiropody 10.1 TBX3 TBX5
8 mayer-rokitansky-kuster-hauser syndrome 10.0 TBX3 TBX5
9 adult syndrome 9.9
10 ankyloglossia 9.9
11 sinoatrial node disease 9.8 TBX18 TBX3
12 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.8
13 chromosome 6p deletion 9.8
14 talipes equinovarus 9.8
15 heart septal defect 9.7 TBX1 TBX5
16 holt-oram syndrome 9.6 TBX1 TBX3 TBX5
17 inguinal hernia 9.5 TBX1 TBX2 TBX3
18 atrioventricular septal defect 9.5 TBX1 TBX5

Graphical network of the top 20 diseases related to Ulnar-Mammary Syndrome:



Diseases related to Ulnar-Mammary Syndrome
Sources

Symptoms & Phenotypes for Ulnar-Mammary Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity

Endocrine Features:
delayed puberty
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk

Abdomen Gastrointestinal:
anal atresia
pyloric stenosis
anal stenosis

Head And Neck Teeth:
hypodontia
ectopic upper canines

Skin Nails Hair Hair:
sparse axillary hair

Neurologic Central Nervous System:
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk

Skeletal Limbs:
hypoplastic humerus
hypoplastic/absent/deformed ulna
hypoplastic/absent/deformed radius

Head And Neck Eyes:
scant lateral eyebrows

Genitourinary Internal Genitalia Female:
imperforate hymen

Skin Nails Hair Skin:
axillary apocrine gland hypoplasia

Abdomen External Features:
inguinal hernia

Chest Breasts:
inverted nipples
breast hypoplasia
nipple hypoplasia

Cardiovascular Heart:
ventricular septal defect
wolff-parkinson-white arrhythmia

Genitourinary External Genitalia Male:
shawl scrotum
small penis

Respiratory Larynx:
subglottic stenosis

Skeletal Hands:
postaxial polydactyly
absent 3rd, 4th, and 5th ulnar rays

Growth Height:
delayed growth

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapula
hypoplastic clavicle

Skeletal Feet:
short fourth and fifth toes


Clinical features from OMIM:

181450

Human phenotypes related to Ulnar-Mammary Syndrome:

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
2 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
3 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
4 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
5 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
6 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
7 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
8 hypoplastic toenails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001800
9 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
10 abnormality of temperature regulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0004370
11 sprengel anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000912
12 hernia of the abdominal wall 59 32 occasional (7.5%) Occasional (29-5%) HP:0004299
13 abnormality of the metacarpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0001163
14 decreased fertility 59 32 frequent (33%) Frequent (79-30%) HP:0000144
15 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
16 abnormality of the uterus 59 32 frequent (33%) Frequent (79-30%) HP:0000130
17 renal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000089
18 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
19 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
20 hypodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000668
21 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
22 short distal phalanx of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0009882
23 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
24 abnormality of the clavicle 59 32 occasional (7.5%) Occasional (29-5%) HP:0000889
25 postaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001162
26 ectopic anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0004397
27 hypoplastic nipples 59 32 frequent (33%) Frequent (79-30%) HP:0002557
28 absent hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0004050
29 abnormality of the wrist 59 32 frequent (33%) Frequent (79-30%) HP:0003019
30 aplasia of the pectoralis major muscle 59 32 occasional (7.5%) Occasional (29-5%) HP:0009751
31 breast aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100783
32 aplasia/hypoplasia of the ulna 59 32 hallmark (90%) Very frequent (99-80%) HP:0006495
33 abnormality of the radius 59 32 occasional (7.5%) Occasional (29-5%) HP:0002818
34 abnormality of the humerus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003063
35 absent axillary hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002221
36 inguinal hernia 32 HP:0000023
37 inverted nipples 32 HP:0003186
38 abnormality of finger 59 Very frequent (99-80%)
39 sparse lateral eyebrow 32 HP:0005338
40 hypoplasia of the ulna 32 HP:0003022
41 micropenis 32 HP:0000054
42 hypoplasia of the radius 32 HP:0002984
43 shawl scrotum 32 HP:0000049
44 hypoplastic scapulae 32 HP:0000882
45 short clavicles 32 HP:0000894
46 anal stenosis 32 HP:0002025
47 absent radius 32 HP:0003974
48 sparse axillary hair 32 HP:0002215
49 breast hypoplasia 32 HP:0003187
50 short humerus 32 HP:0005792

MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 TBX2 TBX1 TBX3 TBX5 TBX18 TBX6
2 embryo MP:0005380 9.91 TBX2 TBX1 TBX3 TBX15 TBX5 TBX18
3 growth/size/body region MP:0005378 9.87 TBX2 TBX1 TBX3 TBX15 TBX5 TBX18
4 craniofacial MP:0005382 9.83 TBX2 TBX1 TBX3 TBX15 TBX18
5 limbs/digits/tail MP:0005371 9.73 TBX2 TBX1 TBX3 TBX15 TBX5 TBX6
6 digestive/alimentary MP:0005381 9.71 TBX6 TBX2 TBX1 TBX3
7 mortality/aging MP:0010768 9.7 TBX2 TBX1 TBX3 TBX15 TBX5 TBX18
8 muscle MP:0005369 9.35 TBX1 TBX3 TBX15 TBX5 TBX18
9 skeleton MP:0005390 9.1 TBX1 TBX3 TBX15 TBX5 TBX18 TBX6
Sources

Drugs & Therapeutics for Ulnar-Mammary Syndrome

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of TBX3 in Human ES Cell Differentiation Unknown status NCT00581152

Search NIH Clinical Center for Ulnar-Mammary Syndrome

Cochrane evidence based reviews: ulnar-mammary syndrome

Sources

Genetic Tests for Ulnar-Mammary Syndrome

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Genetic tests related to Ulnar-Mammary Syndrome:

# Genetic test Affiliating Genes
1 Ulnar-Mammary Syndrome 29 TBX3
Sources

Anatomical Context for Ulnar-Mammary Syndrome

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MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

41
Breast, Pituitary, Bone, Uterus
Sources

Publications for Ulnar-Mammary Syndrome

About this section

Articles related to Ulnar-Mammary Syndrome:

(show all 33)
# Title Authors Year
1
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome. ( 28145909 )
2017
2
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3. ( 27491074 )
2016
3
Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment. ( 25328580 )
2014
4
Ulnar mammary syndrome. ( 24679913 )
2014
5
TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome. ( 24675841 )
2014
6
Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes. ( 23713051 )
2013
7
Mouse TBX3 mutants suggest novel molecular mechanisms for Ulnar-mammary syndrome. ( 23844108 )
2013
8
Correspondence: Further studies on a kindred reported by Li 2009 as 'A new syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred'. From 'new syndrome' through EEC to ulnar mammary syndrome. ( 22391622 )
2012
9
The ulnar-mammary syndrome gene, Tbx3, is a direct target of the retinoic acid signaling pathway, which regulates its expression during mouse limb development. ( 22535523 )
2012
10
The face of Ulnar Mammary syndrome? ( 21199695 )
2011
11
Ulnar Mammary syndrome and TBX3: expanding the phenotype. ( 19938096 )
2009
12
TBX3, the gene mutated in ulnar-mammary syndrome, promotes growth of mammary epithelial cells via repression of p19ARF, independently of p53. ( 17265068 )
2007
13
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. ( 16892408 )
2006
14
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. ( 16896345 )
2006
15
Novel TBX3 mutation data in families with ulnar-mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects. ( 16530712 )
2006
16
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. ( 16114047 )
2005
17
Tbx3, the ulnar-mammary syndrome gene, and Tbx2 interact in mammary gland development through a p19Arf/p53-independent pathway. ( 16222716 )
2005
18
Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome. ( 16059946 )
2005
19
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. ( 12668638 )
2003
20
Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. ( 12005433 )
2002
21
TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. ( 11748239 )
2002
22
Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. ( 12116211 )
2002
23
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. ( 12668170 )
2002
24
A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. ( 11689487 )
2001
25
The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. ( 10330342 )
1999
26
Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. ( 10468588 )
1999
27
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. ( 9207801 )
1997
28
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome. ( 8923944 )
1996
29
A gene for ulnar-mammary syndrome maps to 12q23-q24.1. ( 8595424 )
1995
30
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome. ( 1481852 )
1992
31
The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene. ( 3621662 )
1987
32
Ulnar-mammary syndrome. ( 3430557 )
1987
33
Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister. ( 991870 )
1976
Sources

Variations for Ulnar-Mammary Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Ulnar-Mammary Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 TBX3 p.Leu143Pro VAR_009601
2 TBX3 p.Tyr149Ser VAR_009602

ClinVar genetic disease variations for Ulnar-Mammary Syndrome:

6
(show top 50) (show all 187)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX3 TBX3, 1-BP DEL, 227T deletion Pathogenic
2 TBX3 TBX3, IVS2DS, G-C, +1 single nucleotide variant Pathogenic
3 TBX3 NM_016569.3(TBX3): c.877A> T (p.Lys293Ter) single nucleotide variant Pathogenic rs104894376 GRCh37 Chromosome 12, 115115449: 115115449
4 TBX3 NM_016569.3(TBX3): c.877A> T (p.Lys293Ter) single nucleotide variant Pathogenic rs104894376 GRCh38 Chromosome 12, 114677644: 114677644
5 TBX3 TBX3, 1-BP INS, 88A insertion Pathogenic
6 TBX3 NM_016569.3(TBX3): c.1051C> T (p.Gln351Ter) single nucleotide variant Pathogenic rs397514484 GRCh37 Chromosome 12, 115114166: 115114166
7 TBX3 NM_016569.3(TBX3): c.1051C> T (p.Gln351Ter) single nucleotide variant Pathogenic rs397514484 GRCh38 Chromosome 12, 114676361: 114676361
8 TBX3 NM_005996.3(TBX3): c.1173G> C (p.Ala391=) single nucleotide variant Benign/Likely benign rs146589414 GRCh37 Chromosome 12, 115112507: 115112507
9 TBX3 NM_005996.3(TBX3): c.1173G> C (p.Ala391=) single nucleotide variant Benign/Likely benign rs146589414 GRCh38 Chromosome 12, 114674702: 114674702
10 TBX3 NM_016569.3(TBX3): c.171G> A (p.Pro57=) single nucleotide variant Likely benign rs201388921 GRCh37 Chromosome 12, 115120835: 115120835
11 TBX3 NM_016569.3(TBX3): c.171G> A (p.Pro57=) single nucleotide variant Likely benign rs201388921 GRCh38 Chromosome 12, 114683030: 114683030
12 TBX3 NM_005996.3(TBX3): c.1126T> A (p.Ser376Thr) single nucleotide variant Benign rs78115331 GRCh38 Chromosome 12, 114674749: 114674749
13 TBX3 NM_005996.3(TBX3): c.1126T> A (p.Ser376Thr) single nucleotide variant Benign rs78115331 GRCh37 Chromosome 12, 115112554: 115112554
14 TBX3 NM_005996.3(TBX3): c.1974C> T (p.Ala658=) single nucleotide variant Conflicting interpretations of pathogenicity rs370307666 GRCh37 Chromosome 12, 115109844: 115109844
15 TBX3 NM_005996.3(TBX3): c.1974C> T (p.Ala658=) single nucleotide variant Conflicting interpretations of pathogenicity rs370307666 GRCh38 Chromosome 12, 114672039: 114672039
16 TBX3 NM_005996.3(TBX3): c.1790C> T (p.Ala597Val) single nucleotide variant Uncertain significance rs200821102 GRCh37 Chromosome 12, 115110028: 115110028
17 TBX3 NM_005996.3(TBX3): c.*747G> A single nucleotide variant Benign rs3741695 GRCh37 Chromosome 12, 115108899: 115108899
18 TBX3 NM_005996.3(TBX3): c.*747G> A single nucleotide variant Benign rs3741695 GRCh38 Chromosome 12, 114671094: 114671094
19 TBX3 NM_005996.3(TBX3): c.1790C> T (p.Ala597Val) single nucleotide variant Uncertain significance rs200821102 GRCh38 Chromosome 12, 114672223: 114672223
20 TBX3 NM_005996.3(TBX3): c.*1539delT deletion Uncertain significance rs886049002 GRCh38 Chromosome 12, 114670302: 114670302
21 TBX3 NM_005996.3(TBX3): c.*1539delT deletion Uncertain significance rs886049002 GRCh37 Chromosome 12, 115108107: 115108107
22 TBX3 NM_005996.3(TBX3): c.*715C> G single nucleotide variant Uncertain significance rs886049005 GRCh37 Chromosome 12, 115108931: 115108931
23 TBX3 NM_005996.3(TBX3): c.*715C> G single nucleotide variant Uncertain significance rs886049005 GRCh38 Chromosome 12, 114671126: 114671126
24 TBX3 NM_005996.3(TBX3): c.*25T> A single nucleotide variant Likely benign rs141350926 GRCh37 Chromosome 12, 115109621: 115109621
25 TBX3 NM_005996.3(TBX3): c.*25T> A single nucleotide variant Likely benign rs141350926 GRCh38 Chromosome 12, 114671816: 114671816
26 TBX3 NM_005996.3(TBX3): c.1899C> T (p.Ser633=) single nucleotide variant Likely benign rs200569006 GRCh38 Chromosome 12, 114672114: 114672114
27 TBX3 NM_005996.3(TBX3): c.1899C> T (p.Ser633=) single nucleotide variant Likely benign rs200569006 GRCh37 Chromosome 12, 115109919: 115109919
28 TBX3 NM_005996.3(TBX3): c.1695C> A (p.His565Gln) single nucleotide variant Likely benign rs528110988 GRCh38 Chromosome 12, 114674180: 114674180
29 TBX3 NM_005996.3(TBX3): c.1695C> A (p.His565Gln) single nucleotide variant Likely benign rs528110988 GRCh37 Chromosome 12, 115111985: 115111985
30 TBX3 NM_005996.3(TBX3): c.1671C> G (p.Thr557=) single nucleotide variant Likely benign rs548288032 GRCh38 Chromosome 12, 114674204: 114674204
31 TBX3 NM_005996.3(TBX3): c.1671C> G (p.Thr557=) single nucleotide variant Likely benign rs548288032 GRCh37 Chromosome 12, 115112009: 115112009
32 TBX3 NM_005996.3(TBX3): c.1233G> A (p.Ala411=) single nucleotide variant Likely benign rs148511845 GRCh38 Chromosome 12, 114674642: 114674642
33 TBX3 NM_005996.3(TBX3): c.1233G> A (p.Ala411=) single nucleotide variant Likely benign rs148511845 GRCh37 Chromosome 12, 115112447: 115112447
34 TBX3 NM_005996.3(TBX3): c.777C> T (p.Ile259=) single nucleotide variant Likely benign rs34627348 GRCh38 Chromosome 12, 114679532: 114679532
35 TBX3 NM_005996.3(TBX3): c.777C> T (p.Ile259=) single nucleotide variant Likely benign rs34627348 GRCh37 Chromosome 12, 115117337: 115117337
36 TBX3 NM_005996.3(TBX3): c.700A> G (p.Ile234Val) single nucleotide variant Likely benign rs117465019 GRCh38 Chromosome 12, 114679609: 114679609
37 TBX3 NM_005996.3(TBX3): c.700A> G (p.Ile234Val) single nucleotide variant Likely benign rs117465019 GRCh37 Chromosome 12, 115117414: 115117414
38 TBX3 NM_005996.3(TBX3): c.619C> T (p.Leu207=) single nucleotide variant Likely benign rs35069811 GRCh38 Chromosome 12, 114680917: 114680917
39 TBX3 NM_005996.3(TBX3): c.619C> T (p.Leu207=) single nucleotide variant Likely benign rs35069811 GRCh37 Chromosome 12, 115118722: 115118722
40 TBX3 NM_005996.3(TBX3): c.61C> T (p.Leu21=) single nucleotide variant Benign/Likely benign rs142592809 GRCh37 Chromosome 12, 115120945: 115120945
41 TBX3 NM_005996.3(TBX3): c.61C> T (p.Leu21=) single nucleotide variant Benign/Likely benign rs142592809 GRCh38 Chromosome 12, 114683140: 114683140
42 TBX3 NM_005996.3(TBX3): c.-71A> G single nucleotide variant Uncertain significance rs886049012 GRCh37 Chromosome 12, 115121076: 115121076
43 TBX3 NM_005996.3(TBX3): c.-71A> G single nucleotide variant Uncertain significance rs886049012 GRCh38 Chromosome 12, 114683271: 114683271
44 TBX3 NM_005996.3(TBX3): c.-198T> C single nucleotide variant Benign rs12366395 GRCh37 Chromosome 12, 115121203: 115121203
45 TBX3 NM_005996.3(TBX3): c.-198T> C single nucleotide variant Benign rs12366395 GRCh38 Chromosome 12, 114683398: 114683398
46 TBX3 NM_005996.3(TBX3): c.-366G> T single nucleotide variant Likely benign rs527797282 GRCh37 Chromosome 12, 115121371: 115121371
47 TBX3 NM_005996.3(TBX3): c.-366G> T single nucleotide variant Likely benign rs527797282 GRCh38 Chromosome 12, 114683566: 114683566
48 TBX3 NM_005996.3(TBX3): c.-392A> G single nucleotide variant Uncertain significance rs886049018 GRCh37 Chromosome 12, 115121397: 115121397
49 TBX3 NM_005996.3(TBX3): c.-392A> G single nucleotide variant Uncertain significance rs886049018 GRCh38 Chromosome 12, 114683592: 114683592
50 TBX3 NM_005996.3(TBX3): c.-417T> G single nucleotide variant Benign rs36202980 GRCh37 Chromosome 12, 115121422: 115121422
Sources

Expression for Ulnar-Mammary Syndrome

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Search GEO for disease gene expression data for Ulnar-Mammary Syndrome.
Sources

Pathways for Ulnar-Mammary Syndrome

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Pathways related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Mesodermal Commitment Pathway 1
Show member pathways
 11.61 TBX1 TBX3 TBX6
2
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.28 TBX5 TBX6
3
Heart Development 1
10.46 TBX1 TBX2 TBX5
Sources

GO Terms for Ulnar-Mammary Syndrome

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Cellular components related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.17 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5

Biological processes related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.93 TBX1 TBX15 TBX18 TBX3
2 positive regulation of transcription, DNA-templated GO:0045893 9.81 TBX1 TBX3 TBX5
3 positive regulation of cell proliferation GO:0008284 9.81 TBX1 TBX2 TBX3
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.8 TBX15 TBX18 TBX2 TBX3 TBX6
5 regulation of transcription, DNA-templated GO:0006355 9.7 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
6 roof of mouth development GO:0060021 9.62 TBX2 TBX3
7 negative regulation of nucleic acid-templated transcription GO:1903507 9.62 TBX15 TBX18
8 embryonic digit morphogenesis GO:0042733 9.61 TBX2 TBX3
9 heart looping GO:0001947 9.61 TBX2 TBX3
10 pattern specification process GO:0007389 9.6 TBX1 TBX5
11 blood vessel development GO:0001568 9.59 TBX1 TBX3
12 positive regulation of cardiac muscle cell proliferation GO:0060045 9.58 TBX2 TBX5
13 mesoderm development GO:0007498 9.58 TBX1 TBX6
14 embryonic cranial skeleton morphogenesis GO:0048701 9.57 TBX1 TBX15
15 embryonic forelimb morphogenesis GO:0035115 9.56 TBX3 TBX5
16 cell aging GO:0007569 9.55 TBX2 TBX3
17 cardiac muscle cell differentiation GO:0055007 9.54 TBX3 TBX5
18 outflow tract septum morphogenesis GO:0003148 9.52 TBX1 TBX2
19 cellular senescence GO:0090398 9.51 TBX2 TBX3
20 outflow tract morphogenesis GO:0003151 9.5 TBX1 TBX2 TBX3
21 embryonic heart tube development GO:0035050 9.49 TBX2 TBX3
22 cell fate specification GO:0001708 9.48 TBX1 TBX6
23 aorta morphogenesis GO:0035909 9.46 TBX1 TBX2
24 forelimb morphogenesis GO:0035136 9.43 TBX3 TBX5
25 heart morphogenesis GO:0003007 9.43 TBX1 TBX2 TBX3
26 multicellular organism development GO:0007275 9.43 TBX1 TBX18 TBX2 TBX3 TBX5 TBX6
27 mammary placode formation GO:0060596 9.37 TBX2 TBX3
28 transcription, DNA-templated GO:0006351 9.17 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5

Molecular functions related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.7 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
2 sequence-specific DNA binding GO:0043565 9.67 TBX1 TBX2 TBX3 TBX5
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 TBX15 TBX2 TBX3 TBX5
4 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001078 9.5 TBX15 TBX2 TBX3
5 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.5 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.46 TBX15 TBX18
7 RNA polymerase II transcription factor binding GO:0001085 9.43 TBX3 TBX6
8 RNA polymerase II activating transcription factor binding GO:0001102 9.4 TBX3 TBX6
9 DNA binding transcription factor activity GO:0003700 9.17 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
Sources

Sources for Ulnar-Mammary Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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